Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E905ins1

DSG2

779 papers

RefSeq Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, ce...

Pfam Domains

Cadherinaa 164–263UCSCCadherin domain
Cadherinaa 278–378UCSCCadherin domain
Cadherinaa 396–490UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 2

HGNC Alias Symbol

CDHF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001943.5
p.E905ins1
c.2714_2715insAAT
Surrounding Variants
1 paper
NM_001943.5
p.T903I
c.2708C>T
1 paper
NM_001943.5
p.R910K
c.2729G>A
1 paper
NM_001943.5
p.E900Q
c.2698G>C
1 paper
NM_001943.5
p.N898T
c.2693A>C
2 papers
NM_001943.5
p.E896_A897insFs
c.2688_2689insGA
2 papers
NM_001943.5
p.E896K
c.2686G>A
2 papers
NM_001943.5
p.E896fs
c.2686_2687fs
1 paper
NM_001943.5
p.S914S
c.2742T>C
1 paper
NM_001943.5
p.Q895R
c.2684A>G
2 papers
NM_001943.5
p.L894W
c.2681T>G
1 paper
NM_001943.5
p.A917_Q918del2
c.2749_2753del6
3 papers
NM_001943.5
p.A917V
c.2750C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."